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rs387906456

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 5.5 Hemophilia A (severity varies)
(-;C) 3.5 Carrier of a Hemophilia A mutation
(C;C) 0 common in clinvar
ReferenceGRCh38 38.1/141
ChromosomeX
Position154928932
GeneF8
is asnp
is mentioned by
dbSNPrs387906456
dbSNP (classic)rs387906456
ClinGenrs387906456
ebirs387906456
HLIrs387906456
Exacrs387906456
Gnomadrs387906456
Varsomers387906456
LitVarrs387906456
Maprs387906456
PheGenIrs387906456
Biobankrs387906456
1000 genomesrs387906456
hgdprs387906456
ensemblrs387906456
geneviewrs387906456
scholarrs387906456
googlers387906456
pharmgkbrs387906456
gwascentralrs387906456
openSNPrs387906456
23andMers387906456
SNPshotrs387906456
SNPdbers387906456
MSV3drs387906456
GWAS Ctlgrs387906456
Max Magnitude5.5
ClinVar
Risk Rs387906456(-;-)
Alt Rs387906456(-;-)
Reference Rs387906456(C;C)
Significance Pathogenic
Disease Hereditary factor VIII deficiency disease
Variation info
Gene F8
CLNDBN Hereditary factor VIII deficiency disease
Reversed 1
HGVS NC_000023.10:g.154157207delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000010977.2,